{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,25]],"date-time":"2025-07-25T10:38:07Z","timestamp":1753439887465,"version":"3.40.4"},"reference-count":26,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2005,12,21]],"date-time":"2005-12-21T00:00:00Z","timestamp":1135123200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2005,12,21]],"date-time":"2005-12-21T00:00:00Z","timestamp":1135123200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ophthalmologica"],"published-print":{"date-parts":[[2006]]},"abstract":"<jats:p>Primary open-angle glaucoma (POAG) is genetically heterogeneous, with 6 named POAG loci GLC1A-F mapped and genes myocilin &lt;i&gt;(MYOC)&lt;\/i&gt; and optineurin &lt;i&gt;(OPTN)&lt;\/i&gt; identified at 2 of the loci. Using penetrance-model-free methods, we screened the POAG loci GLC1A-F in an extended Australian pedigree, using 3\u20135 markers within each locus. p values of less than 0.05 were obtained empirically using SimWalk2 and exactly using Genehunter for 2 markers within the GLC1B region on chromosome 2. Fine mapping of this region produced pvalues of 0.01 or less at 5 markers flanked by D2S1897 and D2S2269. The 9 cM haplotype of interest overlaps the original GLC1B region. These results provide supportive evidence for the GLC1B locus on chromosome 2cen-q13 and verify the existence of POAG susceptibility gene in this region, increasing the likelihood of gene identification.<\/jats:p>","DOI":"10.1159\/000089271","type":"journal-article","created":{"date-parts":[[2005,12,21]],"date-time":"2005-12-21T15:40:16Z","timestamp":1135179616000},"page":"23-30","source":"Crossref","is-referenced-by-count":10,"title":["Confirmation of the Adult-Onset Primary Open Angle Glaucoma Locus GLC1B at 2cen-q13 in an Australian Family"],"prefix":"10.1159","volume":"220","author":[{"given":"Jac C.","family":"Charlesworth","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James M.","family":"Stankovich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David A.","family":"Mackey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jamie E.","family":"Craig","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Haybittel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rodney N.","family":"Westmore","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mich\u00e8le M.","family":"Sale","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2005,12,21]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1136%2Fbjo.80.5.389"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016%2FS0161-6420%2801%2900799-0"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1136%2Fbjo.69.9.664"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1126%2Fscience.1066901"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1126%2Fscience.275.5300.668"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2F8.5.899"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1056%2FNEJM199804093381503"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1167%2Fiovs.02-0693"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016%2FS0002-9394%2803%2900577-4"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1001%2Farchopht.121.8.1181"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1006%2Fgeno.1996.0434"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016%2FS0002-9394%2898%2900073-7"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1038%2Fsj.ejhg.5200645"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2F9.7.1109"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.3109%2F13816819609057894"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1073%2Fpnas.93.25.14771"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1093%2Fbioinformatics%2F17.7.581"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1086%2F301904"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1086%2F338920"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.2307%2F2533202"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1006%2Fgeno.1999.5767"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1038%2F85446"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.3109%2F02713689208999531"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1006%2Fgeno.2002.6751"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1159%2F000071352"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1038%2F80002"}],"container-title":["Ophthalmologica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/89271","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/89271","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T03:39:03Z","timestamp":1745465943000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000089271"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,12,21]]},"references-count":26,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2005,12,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000089271","archive":["Portico"],"relation":{},"ISSN":["0030-3755","1423-0267"],"issn-type":[{"type":"print","value":"0030-3755"},{"type":"electronic","value":"1423-0267"}],"subject":[],"published":{"date-parts":[[2005,12,21]]}}}